Human Genetics.
Overview
| Works: | 155 works in 154 publications in 154 languages | |
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Titles
Bioinformatics for high throughput sequencing[electronic resource] /
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Small supernumerary marker chromosomes (sSMC)[electronic resource] :a guide for human geneticists and clinicians /
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JIMD reports[electronic resource] :case and research reports.2011/2 /
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Inborn metabolic diseases[electronic resource] :diagnosis and treatment /
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Genetically engineered mice for cancer research[electronic resource] :design, analysis, pathways, validation and pre-clinical testing /
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Disorders of sex development[electronic resource] :an integrated approach to management /
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JIMD reports - Case and research reports,[electronic resource] /2011/3
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JIMD reports - Case and research reports,[electronic resource] /2012/1
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JIMD reports - Case and research reports.[electronic resource] /2012/2
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Phosphoinositides II[electronic resource] :the diverse biological functions /
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Human medical research[electronic resource] :ethical, legal and socio-cultural aspects /
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Ethical challenges in genomics research[electronic resource] :a guide to understanding ethics in context /
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Phosphoinositides I[electronic resource] :enzymes of synthesis and degradation /
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Gene regulatory sequences and human disease[electronic resource] /
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Genomics applications for the developing world[electronic resource] /
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JIMD reports - case and research reports.[electronic resource].2012/3
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Clinical cases in primary immunodeficiency diseases[electronic resource] :a problem-solving approach /
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Reviews of physiology, biochemistry and pharmacology.[electronic resource] /163
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Neurofibromatosis Type 1[electronic resource] :molecular and cellular biology /
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Handbook on analyzing human genetic data[electronic resource] :computational approaches and software /
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Hormones, intrauterine health and programming[electronic resource] /
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Congenital hand anomalies and associated syndromes[electronic resource] /
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Founder mutations in inherited cardiac diseases in the Netherlands[electronic resource] /
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Uniparental disomy (UPD) in clinical genetics[electronic resource] :a guide for clinicians and patients /
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Clinical neuroembryology[electronic resource] :development and developmental disorders of the human central nervous system /
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Statistical analysis of next generation sequencing data[electronic resource] /
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Inherited chorioretinal dystrophies[electronic resource] :a textbook and atlas /
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Biotechnology and intellectual property rights[electronic resource] :legal and social implications /
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Genetic counseling for adult neurogenetic disease[electronic resource] :a casebook for clinicians /
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Epigenetic mechanisms in cellular reprogramming[electronic resource] /
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The neuropharmacology of nicotine dependence[electronic resource] /
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Gene- and cell-based treatment strategies for the eye[electronic resource] /
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The neurobiology and genetics of nicotine and tobacco[electronic resource] /
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Craniofacial and dental developmental defects[electronic resource] :diagnosis and management /
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Behavior genetics of cognition across the lifespan[electronic resource] /
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Systems analysis of chromatin-related protein complexes in cancer[electronic resource] /
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Neuromuscular disorders in clinical practice[electronic resource] /
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Systems analysis of human multigene disorders[electronic resource] /
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Design, analysis, and interpretation of genome-wide association scans[electronic resource] /
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Mosaicism in human skin[electronic resource] :understanding nevi, nevoid skin disorders, and cutaneous neoplasia /
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Gamete and embryo-fetal origins of adult diseases[electronic resource] /
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Progress in heritable soft connective tissue diseases[electronic resource] /
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Information-theoretic evaluation for computational biomedical ontologies[electronic resource] /
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Tumor-induced immune suppression[electronic resource] :mechanisms and therapeutic reversal /
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Retinal degenerative diseases[electronic resource] :mechanisms and experimental therapy /
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Primary aldosteronism[electronic resource] :molecular genetics, endocrinology, and translational medicine /
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Gene prioritization[electronic resource] :rationale, methodologies and algorithms /
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Transcriptional and epigenetic mechanisms regulating normal and aberrant blood cell development[electronic resource] /
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Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases[electronic resource] /
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Behavioral neurobiology of Huntington's disease and Parkinson's disease[electronic resource] /
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Preventive and predictive genetics[electronic resource] :towards personalised medicine /
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Informed consent in predictive genetic testing[electronic resource] :a revised model /
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Gene-environment interplay in interpersonal relationships across the lifespan[electronic resource] /
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Assessing rare variation in complex traits[electronic resource] :design and analysis of genetic studies /
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Stem cells in modeling human genetic diseases[electronic resource] /
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Nuclear receptors[electronic resource] :from structure to the clinic /
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Genomic elements in health, disease and evolution[electronic resource] :junk DNA /
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Genomics, personalized medicine and oral disease[electronic resource] /
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The neuropathology of Huntington's disease[electronic resource] :classical findings, recent developments and correlation to functional neuroanatomy /
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Cancer stem cells[electronic resource] :emerging concepts and future perspectives in translational oncology /
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Emerging and evolving topics in multiple sclerosis pathogenesis and treatments[electronic resource] /
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Admixture dynamics, natural selection and diseases in admixed populations[electronic resource] /
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Screening the single euploid embryo[electronic resource] :molecular genetics in reproductive medicine /
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Medullary thyroid carcinoma[electronic resource] :biology, management, treatment /
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Chromosomal translocations and genome rearrangements in cancer[electronic resource] /
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Genome editing[electronic resource] :the next step in gene therapy /
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Novel biomarkers in the continuum of breast cancer[electronic resource] /
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Quasispecies[electronic resource] :from theory to experimental systems /
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Epigenetics[electronic resource] :a different way of looking at genetics /
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The genetics of type 2 diabetes and related traits[electronic resource] :biology, physiology and translation /
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Epigenetics and neuroendocrinology[electronic resource] :clinical focus on psychiatry.Volume 1 /
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Rare hereditary cancers[electronic resource] :diagnosis and management /
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Comparative empirical bioethics[electronic resource] :dilemmas of genetic testing and euthanasia in Israel and Germany /
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Reviews of physiology, biochemistry and pharmacology.[electronic resource] /170
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Congenital heart diseases[electronic resource] :tThe broken heart : clinical features, human genetics and molecular pathways /
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The search for human chromosomes[electronic resource] :a history of discovery /
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The initiation of DNA replication in eukaryotes[electronic resource] /
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Cultural phylogenetics[electronic resource] :concepts and applications in archaeology /
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Epigenetics, the environment, and children's health across lifespans[electronic resource] /
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Genetic influences on response to drug treatment for major psychiatric disorders[electronic resource] /
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Epigenetics and neuroendocrinology[electronic resource] :clinical focus on psychiatry.Volume 2 /
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Field guidelines for genetic experimental designs in high-throughput sequencing[electronic resource] /
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J wave syndromes[electronic resource] :Brugada and early repolarization syndromes /
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How science works[electronic resource] :evolution :the nature of science & the science of nature /
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Disordered vertebral and rib morphology in pudgy mice[electronic resource] :structural relationships to human congenital scoliosis /
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Normative and pragmatic dimensions of genetic counseling[electronic resource] :negotiating genetics and ethics /
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Genomic architecture of schizophrenia across diverse genetic isolates[electronic resource] :a study of dagestan populations /
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FXTAS, FXPOI, and other premutation disorders[electronic resource] /
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Adhesion G protein-coupled receptors[electronic resource] :molecular, physiological and pharmacological principles in health and disease /
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Gene expression and its discontents[electronic resource] :the social production of chronic disease /
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Inborn metabolic diseases[electronic resource] :diagnosis and treatment /
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Genetics, evolution and radiation[electronic resource] :crossing borders, the interdisciplinary legacy of Nikolay W. Timofeeff-Ressovsky /
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Extended heredity :a new understanding of inheritance and evolution /
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Subjects